SETD7 — 29 ClinVar variants
All ClinVar germline SETD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 28 Uncertain significance
Full SETD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SETD7 p.Arg115Cys Uncertain significance Single submitter
- SETD7 p.Arg179Thr Uncertain significance Single submitter
- SETD7 p.Asp101His Uncertain significance Single submitter
- SETD7 p.Gly102Arg Uncertain significance Single submitter
- SETD7 p.Gly80Val Uncertain significance Single submitter
- SETD7 p.Gly84Val Uncertain significance Single submitter
- SETD7 p.His181Tyr Uncertain significance Single submitter
- SETD7 p.His23Arg Uncertain significance Single submitter
- SETD7 p.His23Gln Uncertain significance Single submitter
- SETD7 p.Ile144Val Uncertain significance Single submitter
- SETD7 p.Ile304Met Uncertain significance Single submitter
- SETD7 p.Leu222Phe Uncertain significance Single submitter
- SETD7 p.Pro238Ser Uncertain significance Single submitter
- SETD7 p.Ser174Phe Uncertain significance Single submitter
- SETD7 p.Ser257Gly Uncertain significance Single submitter
- SETD7 p.Thr33Ser Uncertain significance Single submitter
- SETD7 p.Tyr146Cys Uncertain significance Single submitter
- SETD7 p.Tyr156His Uncertain significance Single submitter
- SETD7 p.Tyr30Asp Uncertain significance Single submitter
- SETD7 p.Val73Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- SETD7 p.Asp306Asn Uncertain significance Single submitter
- SETD7 p.Cys288Ser Uncertain significance Single submitter
- SETD7 p.Cys288Tyr Uncertain significance Single submitter
- SETD7 p.Cys303Ser Uncertain significance Single submitter
- SETD7 p.Gly137Glu Uncertain significance Single submitter
- SETD7 p.His252Tyr Uncertain significance Single submitter
- SETD7 p.Ile201Thr Uncertain significance Single submitter
- SETD7 p.Pro210Leu Uncertain significance Single submitter
All SETD7 variants
Benign 1
- p.Pro22= Multiple submitters
Uncertain significance 28
- p.Arg115Cys Single submitter ⚠
- p.Arg179Thr Single submitter ⚠
- p.Asp101His Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Cys288Ser Single submitter ⚠
- p.Cys288Tyr Single submitter ⚠
- p.Cys303Ser Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.Gly84Val Single submitter ⚠
- p.His181Tyr Single submitter ⚠
- p.His23Arg Single submitter ⚠
- p.His23Gln Single submitter ⚠
- p.His252Tyr Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile304Met Single submitter ⚠
- p.Leu222Phe Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro238Ser Single submitter ⚠
- p.Ser174Phe Single submitter ⚠
- p.Ser257Gly Single submitter ⚠
- p.Thr33Ser Single submitter ⚠
- p.Tyr146Cys Single submitter ⚠
- p.Tyr156His Single submitter ⚠
- p.Tyr30Asp Single submitter ⚠
- p.Val73Ile Single submitter ⚠